A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6371854



Internal ID21029407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:129115379..129149304hg38UCSC Ensembl
chr3:128834222..128868147hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3833926
hg1933926
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18211378
Samples
Known GenesISY1, ISY1-RAB43, RAB43
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6371854
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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